Insights Into an Ultra Rare Disease

Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome

Rarity of a disease usually correlates with a limited understanding. Case reports about diagnosed patients are thus very important. A recent study based on genetic findings at CENTOGENE exemplifies this notion for Xia-Gibbs Syndrome. It was published in Molecular Syndromology.


  • Augusto César Cardoso-Dos-Santos
  • et al.